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Page 1
Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation.
Int J Mol Sci. 2023 Mar 7;24(6):5109. doi: 10.3390/ijms24065109.
Int J Mol Sci. 2023.
PMID: 36982178
Free PMC article.
Review.
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
Marín-Quílez A, Di Buduo CA, Díaz-Ajenjo L, Abbonante V, Vuelta E, Soprano PM, Miguel-García C, Santos-Mínguez S, Serramito-Gómez I, Ruiz-Sala P, Peñarrubia MJ, Pardal E, Hernández-Rivas JM, González-Porras JR, García-Tuñón I, Benito R, Rivera J, Balduini A, Bastida JM.
Marín-Quílez A, et al. Among authors: diaz ajenjo l.
Blood. 2023 Jan 26;141(4):406-421. doi: 10.1182/blood.2022016995.
Blood. 2023.
PMID: 36395340
Free PMC article.
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A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling.
Marín-Quílez A, Vuelta E, Díaz-Ajenjo L, Fernández-Infante C, García-Tuñón I, Benito R, Palma-Barqueros V, Hernández-Rivas JM, González-Porras JR, Rivera J, Bastida JM.
Marín-Quílez A, et al. Among authors: diaz ajenjo l.
J Thromb Haemost. 2022 May;20(5):1248-1255. doi: 10.1111/jth.15672. Epub 2022 Feb 28.
J Thromb Haemost. 2022.
PMID: 35170221
Free PMC article.
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